Full data view for gene SATB2

Information The variants shown are described using the NM_001172509.1 transcript reference sequence.

207 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_3i c.(?_-817)_(346+1_347-1)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_200280770)_(200325182_?)del - 45kb deletion - SATB2_000086 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat52 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_5i c.(?_-817)_(597+1_598-1)dup r.? p.? Unknown - pathogenic (dominant) g.(?_200239708)_(203172190_?)dup - 3Mb duplication - SATB2_000083 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat56 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_5i c.(?_-817)_(597+1_598-1)dup r.? p.? Unknown - pathogenic (dominant) g.(?_200239961)_(203172079_?)dup - 3Mb duplication - SATB2_000083 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat62 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_7i c.(?_-817)_(1173+1_1174-1)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_200199481)_(200340178_?)del - 141kb deletion - SATB2_000077 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat02 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_10i c.(?_-817)_(1740+1_1741-1)del r.0 p.0 Unknown - pathogenic (dominant) g.(?_200151782)_(200336956_?)del - 185kb deletion - SATB2_000068 - previously published in Zarate [10], listed in PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat22 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.-59-7T>C r.(=) p.(=) Unknown - likely benign g.200320826A>G g.199456103A>G SATB2(NM_001172509.1):c.-59-7T>C (p.(=)) - SATB2_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_199637244)_(201405505_?)del - 1.77Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat11 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_199632071)_(203218563_?)del - 3.6Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat12 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_191241762)_(201980635_?)del - 10.74Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat13 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_198264747)_(202954071_?)del - 4.68Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat17 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_196499005)_(204851272_?)del - 8.4Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat19 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_196233275)_(201079054_?)del - 4.8Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat21 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_198658273)_(213766678_?)del - 15Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat30 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_192050774)_(206824244_?)del - 14.7Mb deletion - SATB2_000061 - previously published, listed in PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat32 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_198918163)_(203562881_?)del - 4.6Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat37 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_190971040)_(205973973_?)del - 15Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat40 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_198588111)_(200411579_?)del - 1.8Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat44 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_195763510)_(202021245_?)del - 7Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat45 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_190417040)_(202267001_?)del - 11.8Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat50 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_183960049)_(207651502_?)del - 23.7Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat72 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_198971305)_(203082242_?)del - 4.1Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat74 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. _1_11_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_200125357)_(208282806_?)del - 8.1Mb deletion - SATB2_000061 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH, SEQ - - ? 29436146-Pat77 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.9_16del r.(?) p.(Arg4Glufs*68) Unknown - likely pathogenic g.200320751_200320758del g.199456028_199456035del 9_16delGCGGAGCG - SATB2_000053 - - - - De novo - - - - - DNA SEQ-NG - WES GLASS SATB2-130 - - - - - - - - - - 1 YA Zarate
+?/. - c.19dup r.(?) p.(Ser7Lysfs*68) Unknown - likely pathogenic g.200320742dup g.199456019dup - - SATB2_000052 - - - - De novo - - - - - DNA SEQ-NG - WES GLASS SATB2-88 - - - - - - - - - - 1 YA Zarate
?/. - c.112G>A r.(?) p.(Gly38Ser) Unknown - VUS g.200320649C>T - SATB2(NM_015265.4):c.112G>A (p.G38S) - SATB2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.124G>T r.(?) p.(Gly42*) Unknown - pathogenic (dominant) g.200320637C>A g.199455914C>A - - SATB2_000092 - previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat24 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
-?/. - c.150C>A r.(?) p.(=) Unknown - likely benign g.200320611G>T - SATB2(NM_001172509.1):c.150C>A (p.(Ala50=)) - SATB2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.170-76T>C r.(=) p.(=) Unknown - benign g.200298313A>G - SATB2(NM_001172509.2):c.170-76T>C - SATB2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_3i c.(169+1_170-1)_(346+1_347-1)del r.? p.? Unknown - pathogenic (dominant) g.(?_200292552)_(200302732_?)del - 10.2kb deletion - SATB2_000087 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat78 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. 3 c.185T>A r.(?) p.(Val62Asp) Unknown - likely pathogenic (dominant) g.200298222A>T g.199433499A>T - - SATB2_000091 ULD domain; not in ExAC database PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat57 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
-/. - c.195C>T r.(?) p.(=) Unknown - benign g.200298212G>A - SATB2(NM_001172509.2):c.195C>T (p.(Val65=)) - SATB2_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ - c.245_263del r.0? p.(Ala82Glyfs*30) Unknown - pathogenic g.200298146_200298164del g.199433423_199433441del - - SATB2_000095 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-142 - - F no - - - - - - 1 YA Zarate
+?/+? - c.257T>G r.(?) p.(Leu86Arg) Unknown - likely pathogenic g.200298150A>C - - - SATB2_000093 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-136 - - M no - - - - - - 3 YA Zarate
+/. - c.279dup r.(?) p.(Ser94Ter) Unknown - pathogenic g.200298132dup g.199433409dup - - SATB2_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.287T>G r.(?) p.(Leu96Arg) Unknown - likely pathogenic (dominant) g.200298120A>C g.199433397A>C - - SATB2_000090 ULD domain; not in ExAC database PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat51 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.334del r.(?) p.(Ala112ProfsTer6) Unknown - likely pathogenic g.200298074del g.199433351del SATB2(NM_001172509.2):c.334delG (p.A112Pfs*6) - SATB2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.334del r.(?) p.(Ala112Profs*6) Unknown - likely pathogenic g.200298074del g.199433351del - - SATB2_000028 - - - - De novo - - - - - DNA SEQ-NG - ID panel GLASS SATB2-90 - - M - - - - - - - 1 YA Zarate
+/. - c.346G>C r.spl? p.(Gly116Arg) Unknown - pathogenic (dominant) g.200298061C>G g.199433338C>G - - SATB2_000088 ULD domain; not in ExAC database previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat01 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.346G>T r.spl? p.(Gly116Ter) Unknown - pathogenic (dominant) g.200298061C>A g.199433338C>A - - SATB2_000089 ULD domain PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat39 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.346+1G>A r.spl? p.? Unknown - pathogenic g.200298060C>T - SATB2(NM_001172509.2):c.346+1G>A - SATB2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347-23267C>G r.(=) p.(=) Unknown - likely benign g.200269810G>C - SATB2(NM_001172509.2):c.347-23267C>G - SATB2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.347-16324T>C r.(=) p.(=) Unknown - benign g.200262867A>G - SATB2(NM_001172509.2):c.347-16324T>C - SATB2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3i_7i c.(346+1_347-1)_(1173+1_1174-1)del r.? p.? Unknown - pathogenic (dominant) g.(?_200212737)_(200256585_?)del - 44kb deletion - SATB2_000078 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat64 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. 3i_11_ c.(346+1_347-1)_(*2711_?)del r.? p.? Unknown - pathogenic (dominant) g.(?_200018395)_(200246466_?)del - 228kb deletion - SATB2_000062 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ? 29436146-Pat25 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.369G>A r.(?) p.(Trp123*) Unknown - pathogenic g.200246521C>T - - - SATB2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.390T>A r.(?) p.(Tyr130*) Unknown - pathogenic (dominant) g.200246500A>T g.199381777A>T - - SATB2_000085 ULD domain previously published, listed in PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? 29436146-Pat27 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.392T>A r.(?) p.(Val131Glu) Unknown - likely pathogenic (dominant) g.200246498A>T g.199381775A>T - - SATB2_000084 ULD domain; not in ExAC database PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat54 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. 4 c.400del r.(?) p.(Ala134Hisfs*17) Unknown - likely pathogenic g.200246490del g.199381767del 200246490_200246490delC - SATB2_000011 de novo in patient Author, submitted - - De novo - - - - - DNA SEQ-NG blood - GLASS - - Family, 1 affected F no Germany white - - - - 1 YA Zarate
+/. - c.400del r.(?) p.(Ala134Hisfs*17) Unknown - pathogenic (dominant) g.200246490del g.199381767del 400delG - SATB2_000011 ULD domain previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat05 previously published, listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.416T>A r.(?) p.(Val139Glu) Unknown - likely pathogenic g.200246474A>T g.199381751A>T SATB2(NM_001172509.1):c.416T>A (p.(Val139Glu)) - SATB2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.433del r.(?) p.(Asp145MetfsTer6) Unknown - pathogenic g.200246457del g.199381734del - - SATB2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.473+1del r.spl p.? Unknown - likely pathogenic g.200246417del g.199381694del - - SATB2_000054 - - - - Germline - - - - - DNA SEQ-NG - ID panel GLASS SATB2-95 - - M - - - - - - - 1 YA Zarate
?/. - c.474-35G>C r.(=) p.(=) Parent #1 - VUS g.200245245C>G g.199380522C>G - - SATB2_000001 - PubMed: Almomani 2011 - rs1348813 Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD, TSC - PubMed: Almomani 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.474-35G>C r.(=) p.(=) Unknown - benign g.200245245C>G - SATB2(NM_001172509.2):c.474-35G>C - SATB2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.482del r.(?) p.(Lys161Serfs*19) Unknown - likely pathogenic g.200245204del g.199380481del - - SATB2_000013 De novo in patient Author, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - - GLASS - - family, 1 affected M no United States white - - - - 1 YA Zarate
+/. - c.482del r.(?) p.(Lys161Serfs*19) Unknown - pathogenic (dominant) g.200245204del g.199380481del 482delA - SATB2_000013 - previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat28 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.505C>T r.(?) p.(Gln169Ter) Unknown - pathogenic g.200245179G>A g.199380456G>A - - SATB2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.505C>T r.(?) p.(Gln169*) Unknown - pathogenic (dominant) g.200245179G>A g.199380456G>A - - SATB2_000036 - PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat55 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.550A>T r.(?) p.(Lys184Ter) Unknown - pathogenic g.200245134T>A - - - SATB2_000110 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. 5 c.583dup r.(?) p.(Cys195Leufs*14) Unknown - likely pathogenic g.200245101dup g.199380378dup - - SATB2_000015 de novo in patient Author, submitted - - De novo - - - - - DNA SEQ, SEQ-NG - - GLASS - - Family, 1 affected M no United Kingdom (Great Britain) white - - - - 1 YA Zarate
+/. - c.583dup r.(?) p.(Cys195Leufs*14) Unknown - pathogenic (dominant) g.200245101dup g.199380378dup 583dupT - SATB2_000015 - previously published in Zarate [10], listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat16 previously published in Zarate [10], listed in PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.593_595del r.(?) p.(Ser198*) Unknown - pathogenic g.200245089_200245091del g.199380366_199380368del 593_596delinsA - SATB2_000010 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-/. - c.597+112T>G r.(=) p.(=) Unknown - benign g.200244975A>C - SATB2(NM_001172509.2):c.597+112T>G - SATB2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597+170T>C r.(=) p.(=) Unknown - benign g.200244917A>G - SATB2(NM_001172509.2):c.597+170T>C - SATB2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.597+481del r.(=) p.(=) Unknown - benign g.200244618del - SATB2(NM_001172509.2):c.597+481delA - SATB2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.598-4dup r.spl? p.? Unknown - likely benign g.200233443dup - SATB2(NM_001172509.2):c.598-4dup - SATB2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.658C>T r.(?) p.(Gln220Ter) Unknown - pathogenic g.200233370G>A - SATB2(NM_001172509.2):c.658C>T (p.Q220*) - SATB2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.666T>A r.(?) p.(Phe222Leu) Unknown - VUS g.200233362A>T - - - SATB2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.700G>A r.(?) p.(Val234Met) Unknown ACMG likely pathogenic (dominant) g.200233328C>T - - - SATB2_000112 ACMG: PS2, PM2_SUP, PP3; confirmed de novo in trio; last nucleotide of exon 7, spliceAI predicts donor loss (0,96) - - - De novo ? - - - - DNA SEQ-NG-I - - GLASS 187105 - - M no Hungary - - - - - 1 Andreas Laner
+/. - c.715C>T r.(?) p.(Arg239Ter) Unknown - pathogenic g.200213882G>A g.199349159G>A SATB2(NM_001172509.2):c.715C>T (p.R239*) - SATB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.715C>T r.(?) p.(Arg239*) Unknown - pathogenic (dominant) g.200213882G>A g.199349159G>A - - SATB2_000034 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-114 - - - - - - - - - - 1 YA Zarate
+/. - c.715C>T r.(?) p.(Arg239*) Unknown - pathogenic g.200213882G>A g.199349159G>A - - SATB2_000034 - - - - Germline - - - - - DNA SEQ-NG - - - SATB2-121 - - - - - - - - - - 1 YA Zarate
+/. - c.715C>T r.(?) p.(Arg239*) Unknown - pathogenic (dominant) g.200213882G>A g.199349159G>A - - SATB2_000034 - previously published in Zarate [10], listed in PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? 29436146-Pat33 previously published in Zarate [10], listed in PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.715C>T r.(?) p.(Arg239*) Unknown - pathogenic (dominant) g.200213882G>A g.199349159G>A - - SATB2_000034 - PubMed: Zarate 2018 - - Germline/De novo (untested) - - - - - DNA SEQ - - ? 29436146-Pat76 PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/+ - c.715C>T r.(?) p.Arg239* Unknown - pathogenic g.200213882G>A g.199349159G>A - - SATB2_000034 - - - - Unknown - - - - - DNA SEQ - - GLASS SATB2-139 - - M no - - 03y - - - 1 YA Zarate
+/+ - c.715C>T r.(0?) p.(Arg239*) Unknown - pathogenic g.200213882G>A g.199349159G>A - - SATB2_000034 - PubMed: Yamada 2019 - - De novo - - - - - DNA SEQ-NG - - GLASS Patient 1 PubMed: Yamada 2019 - F - Japan - - - - - 3 YA Zarate
+/. - c.715C>T r.(?) p.(Arg239Ter) Unknown - pathogenic g.200213882G>A g.199349159G>A SATB2(NM_001172509.2):c.715C>T (p.R239*) - SATB2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.745G>T r.(?) p.(Gly249Cys) Unknown - VUS g.200213852C>A - SATB2(NM_015265.4):c.745G>T (p.G249C) - SATB2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.757A>G r.(?) p.(Met253Val) Unknown - VUS g.200213840T>C - SATB2(NM_015265.4):c.757A>G (p.M253V) - SATB2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.760C>T r.(?) p.(His254Tyr) Unknown - likely pathogenic g.200213837G>A g.199349114G>A - - SATB2_000051 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-68 - - - - - - - - - - 1 YA Zarate
+/. - c.808_809del r.(?) p.(Gln270Valfs*33) Unknown - pathogenic (dominant) g.200213789_200213790del g.199349066_199349067del 808_809delCA - SATB2_000082 - PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat65 PubMed: Zarate 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. 7 c.816del r.(?) p.(His273Thrfs*21) Unknown - likely pathogenic g.200213781del g.199349058del - - SATB2_000016 De novo in patient Author, submitted - - De novo - - - - - DNA SEQ, SEQ-NG blood - GLASS - - Family, 1 affected M no United States white - - - - 1 YA Zarate
+/. - c.816del r.(?) p.(His273Thrfs*21) Unknown - pathogenic (dominant) g.200213781del g.199349058del 816delT - SATB2_000016 - previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat10 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.819_820del r.(?) p.(His273GlnfsTer30) Unknown - pathogenic g.200213779_200213780del - SATB2(NM_001172509.2):c.819_820delCA (p.H273Qfs*30) - SATB2_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.830A>T r.(?) p.(His277Leu) Unknown - VUS g.200213767T>A - SATB2(NM_001172509.2):c.830A>T (p.(His277Leu)) - SATB2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.832del r.(?) p.(His278Thrfs*16) Unknown - likely pathogenic g.200213766del g.199349043del - - SATB2_000056 - - - - De novo - - - - - DNA SEQ-NG - Targete testing GLASS SATB2-123 - - M - - - - - - - 1 YA Zarate
+?/. 7 c.847C>T r.(?) p.(Arg283*) Unknown - likely pathogenic g.200213750G>A g.199349027G>A - - SATB2_000012 de novo in patient Author, submitted - - De novo - - - - - DNA SEQ-NG blood - GLASS - - family, 1 affected M no United States white, hispanic - - - - 1 YA Zarate
+/. - c.847C>T r.(?) p.(Arg283Ter) Unknown - pathogenic g.200213750G>A g.199349027G>A SATB2(NM_001172509.2):c.847C>T (p.R283*) - SATB2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic (dominant) g.200213750G>A g.199349027G>A - - SATB2_000012 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-89 - - - - - - - - - - 1 YA Zarate
+/. - c.847C>T r.(?) p.(Arg283*) Unknown - pathogenic (dominant) g.200213750G>A g.199349027G>A - - SATB2_000012 - previously published, listed in PubMed: Zarate 2018 - - De novo - - - - - DNA SEQ - - ? 29436146-Pat04 previously published, listed in PubMed: Zarate 2018 - M - - - - - - - 1 Johan den Dunnen
+/+ - c.847C>T r.(?) p.Arg283* Unknown - pathogenic g.200213750G>A g.199349027G>A - - SATB2_000012 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-117 - - M - - - 12y - - - 3 YA Zarate
+/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - pathogenic g.200213750G>A g.199349027G>A - - SATB2_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044874 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.868C>T r.(?) p.(Gln290*) Unknown - pathogenic (dominant) g.200213729G>A g.199349006G>A - - SATB2_000038 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-83 - - - - - - - - - - 1 YA Zarate
+?/. - c.868C>T r.(?) p.(Gln290*) Unknown - pathogenic g.200213729G>A g.199349006G>A - - SATB2_000038 - - - - Germline - - - - - DNA SEQ-NG - - GLASS SATB2-91 - - - - - - - - - - 1 YA Zarate
+/. - c.895_898del r.(?) p.(Ser299ProfsTer8) Unknown - pathogenic g.200213699_200213702del g.199348976_199348979del SATB2(NM_001172509.2):c.895_898delTCTC (p.S299Pfs*8) - SATB2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.929_930insTTGTAAGGCAAC r.(?) p.(Gln310delinsHisCysLysAlaThr) Unknown - pathogenic g.200213667_200213668insGTTGCCTTACAA g.199348944_199348945insGTTGCCTTACAA - - SATB2_000003 - PubMed: Gilissen 2014 - - De novo - - - - - DNA SEQ - - ID - PubMed: Gilissen 2014 - ? ? - - - - - - 1 Marianne Vos (LOVD-team)
+?/. - c.988C>T r.(?) p.(Gln330*) Unknown - likely pathogenic g.200213609G>A g.199348886G>A - - SATB2_000050 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-127 - - - - - - - - - - 1 YA Zarate
+?/. - c.997C>T r.(?) p.(Gln333*) Unknown - likely pathogenic g.200213600G>A g.199348877G>A - - SATB2_000049 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-97 - - - - - - - - - - 1 YA Zarate
-?/. - c.1060A>G r.(?) p.(Thr354Ala) Unknown - likely benign g.200213537T>C - SATB2(NM_001172509.1):c.1060A>G (p.(Thr354Ala)) - SATB2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1102G>T r.(?) p.(Val368Phe) Unknown - likely pathogenic g.200213495C>A g.199348772C>A - - SATB2_000048 - - - - De novo - - - - - DNA SEQ-NG - - GLASS SATB2-133 - - - - - - - - - - 1 YA Zarate
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